Dilation of the aortic root in mitochondrial disease patients

Nicola Brunetti-Pierri, Ricardo Pignatelli, Negin Fouladi, Jeffrey Towbin, John W. Belmont, William J. Craigen, Lee Jun Wong, John Jefferies, Fernando Scaglia

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Mitochondrial cytopathies are genetically, clinically, and biochemically heterogeneous disorders due to defects of oxidative phosphorylation. The heart is highly energy dependent and therefore particularly vulnerable to defects of energy production. Hypertrophic and dilated cardiomyopathy and left ventricular noncompaction are the main cardiac manifestations occurring in mitochondrial cytopathies. Here we report ten patients with mitochondrial cytopathy presenting with dilation of the aorta. This clinical feature has not been previously reported to be associated with mitochondrial disease. The long term consequences of this observation are unknown and follow-up studies are needed to clarify the impact of this finding in the population of subjects with mitochondrial cytopathies. The mechanism(s) involved in the pathogenesis of this complication are unknown and may be potentially implicated also in the pathogenesis of other more common etiologies of aortic aneurysmal disease.

Original languageEnglish (US)
Pages (from-to)167-170
Number of pages4
JournalMolecular Genetics and Metabolism
Volume103
Issue number2
DOIs
StatePublished - Jun 1 2011
Externally publishedYes

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Mitochondrial Diseases
Dilatation
Defects
Aortic Diseases
Hypertrophic Cardiomyopathy
Oxidative Phosphorylation
Dilated Cardiomyopathy
Aorta
Mitochondrial cytopathy
Population

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Brunetti-Pierri, N., Pignatelli, R., Fouladi, N., Towbin, J., Belmont, J. W., Craigen, W. J., ... Scaglia, F. (2011). Dilation of the aortic root in mitochondrial disease patients. Molecular Genetics and Metabolism, 103(2), 167-170. https://doi.org/10.1016/j.ymgme.2011.02.007

Dilation of the aortic root in mitochondrial disease patients. / Brunetti-Pierri, Nicola; Pignatelli, Ricardo; Fouladi, Negin; Towbin, Jeffrey; Belmont, John W.; Craigen, William J.; Wong, Lee Jun; Jefferies, John; Scaglia, Fernando.

In: Molecular Genetics and Metabolism, Vol. 103, No. 2, 01.06.2011, p. 167-170.

Research output: Contribution to journalArticle

Brunetti-Pierri, N, Pignatelli, R, Fouladi, N, Towbin, J, Belmont, JW, Craigen, WJ, Wong, LJ, Jefferies, J & Scaglia, F 2011, 'Dilation of the aortic root in mitochondrial disease patients', Molecular Genetics and Metabolism, vol. 103, no. 2, pp. 167-170. https://doi.org/10.1016/j.ymgme.2011.02.007
Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin J, Belmont JW, Craigen WJ et al. Dilation of the aortic root in mitochondrial disease patients. Molecular Genetics and Metabolism. 2011 Jun 1;103(2):167-170. https://doi.org/10.1016/j.ymgme.2011.02.007
Brunetti-Pierri, Nicola ; Pignatelli, Ricardo ; Fouladi, Negin ; Towbin, Jeffrey ; Belmont, John W. ; Craigen, William J. ; Wong, Lee Jun ; Jefferies, John ; Scaglia, Fernando. / Dilation of the aortic root in mitochondrial disease patients. In: Molecular Genetics and Metabolism. 2011 ; Vol. 103, No. 2. pp. 167-170.
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